{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2695211330",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.361-11T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2901373[alleleid]",
        "alleleId": 2901373,
        "preferredName": "NM_001114753.3(ENG):c.361-11T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2735348",
        "RCV": [
          "RCV003593376"
        ],
        "variationId": 2735348
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2539078181",
        "rs": 2539078181
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127826683,
          "referenceAllele": "A",
          "start": 127826682
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127826683A>T",
        "CM000671.2:g.127826683A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130588962,
          "referenceAllele": "A",
          "start": 130588961
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130588962A>T",
        "CM000671.1:g.130588962A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129628783,
          "referenceAllele": "A",
          "start": 129628782
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129628783A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33086,
          "referenceAllele": "T",
          "start": 33085
        }
      ],
      "hgvs": [
        "NG_009551.1:g.33086T>A",
        "LRG_589:g.33086T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.-186-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-186-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.361-11T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.361-11T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:n.361-11T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:n.361-11T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000462196.1:n.261-11T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 518,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.-186-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:n.-186-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.361-11T>A",
        "LRG_589t1:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.361-11T>A",
        "LRG_589t2:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 518,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.-186-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-186-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 1225,
          "referenceAllele": "A",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 1224
        }
      ],
      "hgvs": [
        "XR_001746952.2:n.82+1225A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.361-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:n.361-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.361-11T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.361-11T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:n.361-11T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:n.361-11T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.-186-11T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:n.-186-11T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}